Affiliation: Harvard University
- The adult galactosemic phenotypeSusan E Waisbren
Children s Hospital Boston, Boston, MA, USA
J Inherit Metab Dis 35:279-86. 2012..Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression...
- Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinicS Waisbren
Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
Mol Genet Metab 99:S96-9. 2010..In addition to long-term monitoring of outcomes in PKU, this uniform screening approach facilitates PKU research, as data may be pooled across multiple clinics using a consistent battery of assessment measures...
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsS E Waisbren
Department of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02215, USA
Mol Genet Metab 95:39-45. 2008....
- Gender differences in research grant applications and funding outcomes for medical school facultySusan E Waisbren
Children s Hospital, Boston, Massachusetts, USA
J Womens Health (Larchmt) 17:207-14. 2008..To evaluate whether there were differences in acquisition of research grant support between male and female faculty at eight Harvard Medical School-affiliated institutions...
- Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysisSusan E Waisbren
Children s Hospital Boston, 1 Autumn Street, Room 525, Boston, MA 02115, USA
Mol Genet Metab 92:63-70. 2007..In conclusion, these results confirm a significant correlation between blood Phe level and IQ in patients with PKU, and support the use of Phe as a predictive biomarker for IQ in clinical trials...
- Brief report: Predictors of parenting stress among parents of children with biochemical genetic disordersSusan E Waisbren
Children s Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
J Pediatr Psychol 29:565-70. 2004..To examine predictors of parenting stress in parents whose children were diagnosed with a biochemical genetic disorder clinically or through newborn screening...
- Expanded newborn screening: information and resources for the family physicianSusan E Waisbren
Children s Hospital Boston, Boston, Massachusetts 02115, USA
Am Fam Physician 77:987-94. 2008....
- Expanded newborn screening for biochemical disorders: the effect of a false-positive resultElizabeth A Gurian
Department of Medicine, Children s Hospital Boston, Boston, MA 02115, USA
Pediatrics 117:1915-21. 2006..False-positive identifications may increase as disorders are added to screening panels. Concerns arise regarding the potential impact on parental stress, family relationships, and perceptions of the child's health...
- Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive studyKevin M Antshel
Department of Psychiatry, Children s Hospital Boston, Boston, MA, USA
Neuropsychology 18:658-64. 2004..Cognitive complications in galactosemia appear to emerge even in well-treated children...
- Cognitive and behavioral development in maternal phenylketonuria offspringSusan E Waisbren
Department Psychiatry, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
Pediatrics 112:1544-7. 2003..To assess cognitive and behavioral outcome in treated maternal phenylketonuria (PKU) offspring...
- Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stressSusan E Waisbren
Children s Hospital Boston, Mass 02115, USA
JAMA 290:2564-72. 2003..Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program...
- Pregnancy experiences in the woman with mild hyperphenylalaninemiaHarvey L Levy
Division of Genetics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Pediatrics 112:1548-52. 2003..A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report...
- Parental tolerance of false-positive newborn screening resultsLisa A Prosser
Department of Ambulatory Care and Prevention, Harvard Medical School and Harvard Pilgrim Health Care, 133 Brookline Ave, Sixth Floor, Boston, MA 02215, USA
Arch Pediatr Adolesc Med 162:870-6. 2008..To measure parental tolerance for a false-positive newborn screening result by assessing perceived quality of life for screening results and health states associated with expanded newborn screening programs for metabolic disorders...
- Impact of false-positive newborn metabolic screening results on early health care utilizationEllen A Lipstein
Center for Child and Adolescent Health Policy, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
Genet Med 11:716-21. 2009..To analyze the association between false-positive newborn screening results and health care utilization...
- Stability of blood phenylalanine levels and IQ in children with phenylketonuriaVera Anastasoaie
Children s Hospital Boston, Department of Genetics, Boston, MA 02115, USA
Mol Genet Metab 95:17-20. 2008..In treating PKU, attention should be given to variability in blood phe levels as well as maintenance of phe levels within the recommended range...
- Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screeningRoman Yusupov
Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
Mol Genet Metab 101:33-9. 2010....
- Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levelsKevin M Antshel
Department of Psychiatry, Children s Hospital Boston, Boston, Massachusetts, USA
Am J Orthopsychiatry 72:577-84. 2002..Implications for treating MPKU are discussed, and prenatal psychotherapy is forwarded as a means of improving birth outcomes in this population...
- Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expressionKevin M Antshel
Children s Hospital Boston, Division of Psychology, Department of Psychiatry, Harvard Medical School, Longwood Avenue, Boston, Massachusetts, USA
J Abnorm Child Psychol 31:565-74. 2003..This toxicity is dose-dependent and higher levels of phenylalanine appear more detrimental...
- A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlationsJennifer K Gentile
NIH Rare Diseases Clinical Research Network Angelman, Rett, and Prader Willi Syndromes Consortium, Boston, MA, USA
J Dev Behav Pediatr 31:592-601. 2010..It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS...
- Barriers to successful dietary control among pregnant women with phenylketonuriaAmanda Savage Brown
Division of Applied Public Health Training, Epidemiology Program Office, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 4:84-9. 2002..The disparities in financial assistance and services available to pregnant women with PKU residing in different states should be examined further...
- Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplarKevin M Antshel
Children s Hospital Boston and Harvard Medical School, USA
J Child Psychol Psychiatry 45:622-30. 2004..This study assesses child and parent attributions in pediatric chronic health conditions and addresses how attributional style may be related to treatment adherence...
- Timing is everything: executive functions in children exposed to elevated levels of phenylalanineKevin M Antshel
Department of Psychiatry, Children s Hospital Boston and Harvard Medical School, USA
Neuropsychology 17:458-68. 2003..Executive function difficulties noted in PKU are consistent with attention deficit hyperactivity disorder (ADHD)-inattentive type, whereas maternal PKU offspring had executive function difficulties consistent with ADHD-combined type...
- Newborn screening for metabolic disordersSusan E Waisbren
JAMA 296:993-5. 2006
- Expanded screening of newborns for genetic disordersSusan E Waisbren
JAMA 291:820-1; author reply 821. 2004
- Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiencyDarren J Fowler
Lancet 359:628. 2002
- EXPANDED NEWBORN SCREENING FOR METABOLIC DISORDERSSusan Waisbren; Fiscal Year: 2002..When the infants are 6 months old, their parents will be interviewed about their knowledge of newborn screening, their response to the information they received and their satisfaction with the newborn screening process. ..
- EXPANDED NEWBORN SCREENING FOR METABOLIC DISORDERSSusan Waisbren; Fiscal Year: 2006..Primary data from parent interviews and the New England Newborn Screening Program, as well as secondary data from published reports and a panel of experts will be used as inputs to the cost-effectiveness model. ..